Zhang Zheng-Hua, Huang Wei, Niu Zhen-Min, Liu Wei-Da, Xiang Lei-Hong, Yuan Wen-Tao, Zhao Jing-Jun, Gu Chao-Ying, Chai Bao, Jiang Fa-Xing, Zhang Jing, Xu Shi-Jie, Zheng Zhi-Zhong
Department of Dermatology, Hua Shan Hospital, Shanghai Medical College, Fu Dan University, Shanghai, PR China.
J Am Acad Dermatol. 2005 Jun;52(6):972-6. doi: 10.1016/j.jaad.2005.01.099.
Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Recently, SSH1 was identified as the DSAP candidate gene.
Our purpose was to determine the locus of DSAP and identify the candidate gene(s) of the disease.
Genome-wide scanning and linkage analysis were performed in a 6-generation Chinese family with DSAP. The coding exons and promoter region of the candidate genes were screened for the nucleotide variations.
A missense mutation (p.Ser63Asn) in SSH1 and a variation (dbSNP3759383: G>A) in the promoter region of ARPC3 were closely linked with DSAP in the pedigree.
Both SSH1 and ARPC3 are involved in the actin cytoskeleton pathway and interacted with adherent junctions in the epidermal cells. We suggested that cytoskeleton disorganization in epidermal cells was likely associated with the pathogenesis of DSAP.
播散性浅表性光化性汗孔角化症（DSAP）是一种罕见的常染色体显性慢性角化障碍性疾病，其特征为多个浅表角化性皮损，周围有轻度隆起的角化性边缘。最近，SSH1被确定为DSAP候选基因。
我们的目的是确定DSAP的基因座并鉴定该疾病的候选基因。
对一个患有DSAP的6代中国家系进行全基因组扫描和连锁分析。对候选基因的编码外显子和启动子区域进行核苷酸变异筛查。
SSH1中的一个错义突变（p.Ser63Asn）和ARPC3启动子区域的一个变异（dbSNP3759383：G>A）与该家系中的DSAP紧密连锁。
SSH1和ARPC3均参与肌动蛋白细胞骨架途径，并与表皮细胞中的黏附连接相互作用。我们认为表皮细胞中的细胞骨架紊乱可能与DSAP的发病机制有关。
